publicdata/nih-gov
1
0
Fork 0
Code Issues Pull requests Projects Releases Packages Wiki Activity Actions
nih-gov/www.ncbi.nlm.nih.gov/dbvar/content/clinvar_summary/index.html

663 lines
58 KiB
HTML
Raw Blame History

<?xml version="1.0" encoding="utf-8"?>
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-transitional.dtd">
<html xmlns="http://www.w3.org/1999/xhtml" xml:lang="en" lang="en">
<head><meta http-equiv="Content-Type" content="text/html; charset=utf-8" />
<!-- AppResources meta begin -->
<meta name="paf-app-resources" content="" />
<!-- AppResources meta end -->
<!-- TemplateResources meta begin -->
<meta name="paf_template" content="StdNCol" />
<!-- TemplateResources meta end -->
<!-- Page meta begin -->
<!-- Page meta end -->
<!-- Logger begin -->
<meta xmlns:ncbi-portal="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" name="ncbi_app" content="dbvar" /><meta xmlns:ncbi-portal="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" name="ncbi_pdid" content="static" />
<!-- Logger end -->
<title>Summary of nstd102 (Clinical Structural Variants)</title>
<!-- PageFixtures headcontent begin -->
<meta name="ncbi_app" content="dbvar" />
<!-- PageFixtures headcontent end -->
<!-- AppResources external_resources begin -->
<script type="text/javascript" src="/core/jig/1.15.3/js/jig.min.js"></script>
<!-- AppResources external_resources end -->
<!-- Page headcontent begin -->
<meta name="subsite" content="dbvar" />
<meta name="path" content="dbvar/content/clinvar_summary" />
<meta name="modified" content="2023-09-18T14:00:07Z" />
<!-- Page headcontent end -->
<!-- PageFixtures resources begin -->
<link xmlns="http://www.w3.org/1999/xhtml" type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4218191/css/4207974/4206132.css" xml:base="http://127.0.0.1/sites/static/header_footer" />
<!-- PageFixtures resources end -->
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico" /><meta name="ncbi_phid" content="CE8DD50A7C81D0C10000000000720063.m_5" /><script type="text/javascript"><!--
var ScriptPath = '/portal/';
var objHierarchy = {"name":"PAFAppLayout","type":"Layout","realname":"PAFAppLayout",
"children":[{"name":"PAFAppLayout.AppController","type":"Cluster","realname":"PAFAppLayout.AppController",
"children":[{"name":"PAFAppLayout.AppController.AppResources","type":"Portlet","realname":"PAFAppLayout.AppController.AppResources","shortname":"AppResources"},
{"name":"PAFAppLayout.AppController.RequestProcessor","type":"Portlet","realname":"PAFAppLayout.AppController.RequestProcessor","shortname":"RequestProcessor"},
{"name":"PAFAppLayout.AppController.Controller","type":"Cluster","realname":"PAFAppLayout.AppController.Controller",
"children":[{"name":"PAFAppLayout.AppController.Controller.PAFStaticContentController","type":"Portlet","realname":"PAFAppLayout.AppController.Controller.PAFControllerSelector.PAFStaticContentController","shortname":"PAFStaticContentController"}]},
{"name":"PAFAppLayout.AppController.Page","type":"Cluster","realname":"PAFAppLayout.AppController.Page",
"children":[{"name":"PAFAppLayout.AppController.Page.PAFPageSelectorData","type":"Portlet","realname":"PAFAppLayout.AppController.Page.PAFPageSelector.PAFPageSelectorData","shortname":"PAFPageSelectorData"},
{"name":"PAFAppLayout.AppController.Page.PAFStaticPage","type":"Cluster","realname":"PAFAppLayout.AppController.Page.PAFPageSelector.PAFStaticPage",
"children":[{"name":"PAFAppLayout.AppController.Page.PAFStaticPage.MainPortlet","type":"Portlet","realname":"PAFAppLayout.AppController.Page.PAFPageSelector.PAFStaticPage.MainPortlet","shortname":"MainPortlet"}]}]},
{"name":"PAFAppLayout.AppController.PageFixtures","type":"Cluster","realname":"PAFAppLayout.AppController.PageFixtures",
"children":[{"name":"PAFAppLayout.AppController.PageFixtures.PageFixturesP","type":"Portlet","realname":"PAFAppLayout.AppController.PageFixtures.PAFPageFixtures.PageFixturesP","shortname":"PageFixturesP"},
{"name":"PAFAppLayout.AppController.PageFixtures.SearchBar","type":"Cluster","realname":"PAFAppLayout.AppController.PageFixtures.PAFPageFixtures.SearchBar",
"children":[{"name":"PAFAppLayout.AppController.PageFixtures.SearchBar.SearchBarChooser","type":"Portlet","realname":"PAFAppLayout.AppController.PageFixtures.PAFPageFixtures.SearchBar.SearchBarChooser","shortname":"SearchBarChooser"},
{"name":"PAFAppLayout.AppController.PageFixtures.SearchBar.PAFSearchBar","type":"Portlet","realname":"PAFAppLayout.AppController.PageFixtures.PAFPageFixtures.SearchBar.PAFSearchBar","shortname":"PAFSearchBar"}]},
{"name":"PAFAppLayout.AppController.PageFixtures.HeaderFooter","type":"Cluster","realname":"PAFAppLayout.AppController.PageFixtures.PAFPageFixtures.HeaderFooter",
"children":[{"name":"PAFAppLayout.AppController.PageFixtures.HeaderFooter.NCBIBreadcrumbs","type":"Portlet","realname":"PAFAppLayout.AppController.PageFixtures.PAFPageFixtures.HeaderFooter.NCBIBreadcrumbs","shortname":"NCBIBreadcrumbs"},
{"name":"PAFAppLayout.AppController.PageFixtures.HeaderFooter.NCBIHelpDesk","type":"Portlet","realname":"PAFAppLayout.AppController.PageFixtures.PAFPageFixtures.HeaderFooter.NCBIHelpDesk","shortname":"NCBIHelpDesk"},
{"name":"PAFAppLayout.AppController.PageFixtures.HeaderFooter.NCBIApplog_NoScript_Ping","type":"Portlet","realname":"PAFAppLayout.AppController.PageFixtures.PAFPageFixtures.HeaderFooter.NCBIApplog_NoScript_Ping","shortname":"NCBIApplog_NoScript_Ping"}]},
{"name":"PAFAppLayout.AppController.PageFixtures.LocalNavPortlet","type":"Portlet","realname":"PAFAppLayout.AppController.PageFixtures.PAFPageFixtures.LocalNavPortlet","shortname":"LocalNavPortlet"}]},
{"name":"PAFAppLayout.AppController.TemplateResources","type":"Cluster","realname":"PAFAppLayout.AppController.TemplateResources",
"children":[{"name":"PAFAppLayout.AppController.TemplateResources.StdNColResources","type":"Portlet","realname":"PAFAppLayout.AppController.TemplateResources.PAFTemplateResources.StdNColResources","shortname":"StdNColResources"}]},
{"name":"PAFAppLayout.AppController.Logger","type":"Portlet","realname":"PAFAppLayout.AppController.Logger","shortname":"Logger"},
{"name":"PAFAppLayout.AppController.DebugConsole","type":"Portlet","realname":"PAFAppLayout.AppController.DebugConsole","shortname":"DebugConsole"}]}]};
--></script>
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4206115/css/4121862/3974050/3917732/251717/4139921/3428953/14534/45193/3534283/4128070/4062871/4005757.css" /><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4206115/css/3529741/3529739.css" media="print" /><script type="text/javascript">
var ObjectLinks=[{i:0, ename: "p$ExL", esid:"*", sname: "p$ExL", ssid:"*", dname:"p$el", dsid:"0",m:"CopyValue",p:[],f: function(src, dst) {fn_CopyValue(src, dst);}}]
var ActiveNames = {"p$ExL":1};
</script></head>
<body class=" static">
<div class="grid">
<div class="col twelve_col nomargin shadow">
<!-- System messages like service outage or JS required; this is handled by the TemplateResources portlet -->
<div class="sysmessages">
<noscript>
<p class="nojs">
<strong>Warning:</strong>
The NCBI web site requires JavaScript to function.
<a href="/guide/browsers/#enablejs" title="Learn how to enable JavaScript" target="_blank">more...</a>
</p>
</noscript>
</div>
<!--/.sysmessage-->
<div class="wrap">
<div class="page">
<div xmlns:xi="http://www.w3.org/2001/XInclude">
<div xmlns="http://www.w3.org/1999/xhtml" id="universal_header" xml:base="http://127.0.0.1/sites/static/header_footer">
<section class="usa-banner">
<div class="usa-accordion">
<header class="usa-banner-header">
<div class="usa-grid usa-banner-inner">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
<p>An official website of the United States government</p>
<button class="non-usa-accordion-button usa-banner-button" aria-expanded="false" aria-controls="gov-banner-top" type="button">
<span class="usa-banner-button-text">Here's how you know</span>
</button>
</div>
</header>
<div class="usa-banner-content usa-grid usa-accordion-content" id="gov-banner-top" aria-hidden="true">
<div class="usa-banner-guidance-gov usa-width-one-half">
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg" alt="Dot gov" />
<div class="usa-media_block-body">
<p>
<strong>The .gov means it's official.</strong>
<br />
Federal government websites often end in .gov or .mil. Before
sharing sensitive information, make sure you're on a federal
government site.
</p>
</div>
</div>
<div class="usa-banner-guidance-ssl usa-width-one-half">
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg" alt="Https" />
<div class="usa-media_block-body">
<p>
<strong>The site is secure.</strong>
<br />
The <strong>https://</strong> ensures that you are connecting to the
official website and that any information you provide is encrypted
and transmitted securely.
</p>
</div>
</div>
</div>
</div>
</section>
<div class="usa-overlay"></div>
<header class="ncbi-header" role="banner" data-section="Header">
<div class="usa-grid">
<div class="usa-width-one-whole">
<div class="ncbi-header__logo">
<a href="/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
</a>
</div>
<div class="ncbi-header__account">
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
<button id="account_info" class="header-button" style="display:none" aria-controls="account_popup" type="button">
<span class="fa fa-user" aria-hidden="true">
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 24 24" width="20px" height="20px">
<g style="fill: #fff">
<ellipse cx="12" cy="8" rx="5" ry="6"></ellipse>
<path d="M21.8,19.1c-0.9-1.8-2.6-3.3-4.8-4.2c-0.6-0.2-1.3-0.2-1.8,0.1c-1,0.6-2,0.9-3.2,0.9s-2.2-0.3-3.2-0.9 C8.3,14.8,7.6,14.7,7,15c-2.2,0.9-3.9,2.4-4.8,4.2C1.5,20.5,2.6,22,4.1,22h15.8C21.4,22,22.5,20.5,21.8,19.1z"></path>
</g>
</svg>
</span>
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
<span class="sr-only">Show account info</span>
</button>
</div>
<div class="ncbi-popup-anchor">
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
<div class="ncbi-popup-head">
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu" type="button">
<span class="fa fa-times">
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 48 48" width="24px" height="24px">
<path d="M38 12.83l-2.83-2.83-11.17 11.17-11.17-11.17-2.83 2.83 11.17 11.17-11.17 11.17 2.83 2.83 11.17-11.17 11.17 11.17 2.83-2.83-11.17-11.17z"></path>
</svg>
</span>
<span class="usa-sr-only">Close</span></button>
<h4>Account</h4>
</div>
<div class="account-user-info">
Logged in as:<br />
<b><span class="username" id="uname_long">username</span></b>
</div>
<div class="account-links">
<ul class="usa-unstyled-list">
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
</ul>
</div>
</div>
</div>
</div>
</div>
</header>
<div role="navigation" aria-label="access keys">
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
</div>
<section data-section="Alerts">
<div class="ncbi-alerts-placeholder"></div>
</section>
</div>
</div>
<!--/.header-->
<div class="header">
<div class="res_logo"><h1 class="res_name"><a href="/dbvar/" title="dbVar home">dbVar</a></h1><h2 class="res_tagline">Database of genomic structural variation</h2></div>
<div class="search"><form method="get" action="/dbvar/"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="dbvar" selected="selected">dbVar</option><option value="gap">dbGaP</option><option value="clinvar">ClinVar</option><option value="medgen" class="last">MedGen</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen">MedGen</option><option value="mesh">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search dbVar" value="" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="isEnabled:false,disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'no',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><input type="hidden" name="p$a" id="p$a" /><input type="hidden" name="p$l" id="p$l" value="PAFAppLayout" /><input type="hidden" name="p$st" id="p$st" value="dbvar" /><input name="SessionId" id="SessionId" value="CE8B5AF87C7FFCB1_0191SID" disabled="disabled" type="hidden" /><input name="Snapshot" id="Snapshot" value="/projects/dbVar/dbVar@9.7" disabled="disabled" type="hidden" /></form><ul class="inline_list searchlinks"><li>
<a href="/dbvar/advanced">Advanced</a>
</li><li>
<a class="help" href="/dbvar/content/help">Help</a>
</li></ul></div>
</div>
<div class="nav_and_browser">
</div>
<!-- was itemctrl -->
<div class="container">
<div id="maincontent" class="content col twelve_col last">
<div class="col1">
<h1 id="summary-of-nstd102-clinical-stru">Summary of nstd102 (Clinical Structural Variants)</h1>
<p><strong>Last updated: </strong>Monday, September 18, 2023.</p>
<ol>
<li><a href="#methods">Methods</a><ol>
<li><a href="#filtered">Variants Filtered</a></li>
</ol>
</li>
<li><a href="#statistics">Statistics of nstd102 Variants</a><ol>
<li><a href="#assemblies">Assembly Counts</a></li>
<li><a href="#calls">Variant Call Types</a></li>
<li><a href="#regions">Variant Region Types</a></li>
<li><a href="#clinical">Clinical Significance</a></li>
<li><a href="#origin">Origin</a></li>
<li><a href="#phenotype">Phenotypes</a></li>
</ol>
</li>
<li><a href="#mapping">Mapping to other dbVar Studies</a></li>
<li><a href="#history">nstd102 Load History</a></li>
<li><a href="#data_access">Data Access</a></li>
<li><a href="#additional_info">Additional Information</a></li>
</ol>
<h2 id="methods-">Methods </h2>
<p><a href="/dbvar/studies/nstd102">nstd102</a> contains Structural Variants (SV) imported from <a href="/clinvar">ClinVar</a>. It is intended to replace and supplement clinical variants from several studies that were originally submitted to dbVar (e.g., nstd37, nstd101). nstd102 is kept up to date with the latest ClinVar XML available on the public <a href="https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml">ClinVar FTP site</a>. dbVar variant calls are generated from unique combinations of ClinVar RCV and Allele ID's found in the ClinVar XML, and are filtered to remove small variants as described below. The following sections summarize the statistics of various fields in the nstd102 study.</p>
<h3 id="variants-filtered-">Variants Filtered </h3>
<p>The ClinVar XML contains both large and small variants. dbVar filters out variants that meet any of the following criteria (counts reflect current nstd102 status):</p>
<p><table><tbody>
<tr><th>Filtering Criteria</th><th>Number of ClinVar RCV+AlleleIDs filtered</th></tr>
<tr><td>type="single nucleotide variant"</td><td>2,737,397</td></tr>
<tr><td>has dbSNP rsid</td><td>1</td></tr>
<tr><td>type=Microsatellite</td><td>37,416</td></tr>
<tr><td>only has cytogenetic placements</td><td>3,002</td></tr>
<tr><td>type=Variation</td><td>695</td></tr>
<tr><td>type=Translocation</td><td>91</td></tr>
<tr><td>type="protein only"</td><td>95</td></tr>
<tr><td>type=fusion</td><td>10</td></tr>
<tr><td>length &lt;50bp (potential dbSNP)</td><td>92,654</td></tr>
<tr><th>Total ClinVar RCV+Alleles Filtered</th><th>2,886,101</th></tr>
</tbody></table>
<span id="statistics"></span>
<h2>Statistics of nstd102 Variants</h2>
<p>The following tables reflect current nstd102 status.
<span id="assemblies"></span>
<h3>Assembly Counts</h3>
<table><tbody>
<tr><th>Assembly</th><th>Variant Calls</th><th>Variant Regions</th><th>Query</th></tr>
<tr><td>GRCh37</td><td>88,084</td><td>83,491</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22GRCh37%22%5Bassembly%5D">"nstd102"[study] AND "GRCh37"[assembly]</a></td></tr>
<tr><td>GRCh38</td><td>87,772</td><td>83,189</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22GRCh38%22%5Bassembly%5D">"nstd102"[study] AND "GRCh38"[assembly]</a></td></tr>
<tr><td>NCBI35</td><td>2</td><td>1</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22NCBI35%22%5Bassembly%5D">"nstd102"[study] AND "NCBI35"[assembly]</a></td></tr>
</tbody></table>
<span id="calls"></span>
<h3>Variant Call Types</h3>
<table><tbody>
<tr><th>Variant Call Type</th><th>Total Variant Calls</th><th>Query</th></tr>
<tr><td>copy number loss</td><td>30,828</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd102"[study] AND "copy number loss"[variant_type]</a></td></tr>
<tr><td>copy number gain</td><td>29,944</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd102"[study] AND "copy number gain"[variant_type]</a></td></tr>
<tr><td>deletion</td><td>16,823</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd102"[study] AND "deletion"[variant_type]</a></td></tr>
<tr><td>duplication</td><td>8,513</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd102"[study] AND "duplication"[variant_type]</a></td></tr>
<tr><td>insertion</td><td>598</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd102"[study] AND "insertion"[variant_type]</a></td></tr>
<tr><td>interchromosomal translocation</td><td>494</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd102"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
<tr><td>delins</td><td>460</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22delins%22%5Bvariant_type%5D">"nstd102"[study] AND "delins"[variant_type]</a></td></tr>
<tr><td>intrachromosomal translocation</td><td>285</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd102"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
<tr><td>inversion</td><td>118</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd102"[study] AND "inversion"[variant_type]</a></td></tr>
<tr><td>complex substitution</td><td>69</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd102"[study] AND "complex substitution"[variant_type]</a></td></tr>
<tr><td>tandem duplication</td><td>1</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22tandem duplication%22%5Bvariant_type%5D">"nstd102"[study] AND "tandem duplication"[variant_type]</a></td></tr>
<tr><th>Total</th><th>88,133</th><th></th></tr>
</tbody></table>
<span id="regions"></span>
<h3>Variant Region Types</h3>
<table><tbody>
<tr><th>Variant Region Type</th><th>Total Variant Regions</th><th>Query</th></tr>
<tr><td>copy number variation</td><td>82,238</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd102"[study] AND "copy number variation"[variant_type]</a></td></tr>
<tr><td>insertion</td><td>547</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd102"[study] AND "insertion"[variant_type]</a></td></tr>
<tr><td>delins</td><td>406</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22delins%22%5Bvariant_type%5D">"nstd102"[study] AND "delins"[variant_type]</a></td></tr>
<tr><td>complex chromosomal rearrangement</td><td>244</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22complex chromosomal rearrangement%22%5Bvariant_type%5D">"nstd102"[study] AND "complex chromosomal rearrangement"[variant_type]</a></td></tr>
<tr><td>complex substitution</td><td>69</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd102"[study] AND "complex substitution"[variant_type]</a></td></tr>
<tr><td>inversion</td><td>31</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd102"[study] AND "inversion"[variant_type]</a></td></tr>
<tr><td>translocation</td><td>1</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22translocation%22%5Bvariant_type%5D">"nstd102"[study] AND "translocation"[variant_type]</a></td></tr>
<tr><td>tandem duplication</td><td>1</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22tandem duplication%22%5Bvariant_type%5D">"nstd102"[study] AND "tandem duplication"[variant_type]</a></td></tr>
<tr><th>Total</th><th>83,537</th><th></th></tr>
</tbody></table>
<span id="clinical"></span>
<h3>Clinical Significance</h3>
<table><tbody>
<tr><th>Clinical Significance</th><th>Total Variant Calls</th><th>Query</th></tr>
<tr><td>Uncertain significance</td><td>31,583</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Uncertain significance%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Uncertain significance"[Clinical Interpretation]</a></td></tr>
<tr><td>Pathogenic</td><td>23,338</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Pathogenic%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Pathogenic"[Clinical Interpretation]</a></td></tr>
<tr><td>Benign</td><td>21,840</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Benign%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Benign"[Clinical Interpretation]</a></td></tr>
<tr><td>Likely benign</td><td>5,047</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Likely benign%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Likely benign"[Clinical Interpretation]</a></td></tr>
<tr><td>Likely pathogenic</td><td>4,731</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Likely pathogenic%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Likely pathogenic"[Clinical Interpretation]</a></td></tr>
<tr><td>not provided</td><td>1,065</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22not provided%22%5BClinical Interpretation%5D">"nstd102"[study] AND "not provided"[Clinical Interpretation]</a></td></tr>
<tr><td>Benign/Likely benign</td><td>196</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Benign/Likely benign%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Benign/Likely benign"[Clinical Interpretation]</a></td></tr>
<tr><td>conflicting data from submitters</td><td>180</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22conflicting data from submitters%22%5BClinical Interpretation%5D">"nstd102"[study] AND "conflicting data from submitters"[Clinical Interpretation]</a></td></tr>
<tr><td>Conflicting interpretations of pathogenicity</td><td>46</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Conflicting interpretations of pathogenicity%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Conflicting interpretations of pathogenicity"[Clinical Interpretation]</a></td></tr>
<tr><td>risk factor</td><td>30</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22risk factor%22%5BClinical Interpretation%5D">"nstd102"[study] AND "risk factor"[Clinical Interpretation]</a></td></tr>
<tr><td>drug response</td><td>25</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22drug response%22%5BClinical Interpretation%5D">"nstd102"[study] AND "drug response"[Clinical Interpretation]</a></td></tr>
<tr><td>association</td><td>21</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22association%22%5BClinical Interpretation%5D">"nstd102"[study] AND "association"[Clinical Interpretation]</a></td></tr>
<tr><td>Pathogenic/Likely pathogenic</td><td>17</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Pathogenic/Likely pathogenic%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Pathogenic/Likely pathogenic"[Clinical Interpretation]</a></td></tr>
<tr><td>Pathogenic, low penetrance</td><td>5</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Pathogenic, low penetrance%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Pathogenic, low penetrance"[Clinical Interpretation]</a></td></tr>
<tr><td>other</td><td>2</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22other%22%5BClinical Interpretation%5D">"nstd102"[study] AND "other"[Clinical Interpretation]</a></td></tr>
<tr><td>protective</td><td>2</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22protective%22%5BClinical Interpretation%5D">"nstd102"[study] AND "protective"[Clinical Interpretation]</a></td></tr>
<tr><td>Affects</td><td>1</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Affects%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Affects"[Clinical Interpretation]</a></td></tr>
<tr><td>Likely pathogenic, low penetrance</td><td>1</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Likely pathogenic, low penetrance%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Likely pathogenic, low penetrance"[Clinical Interpretation]</a></td></tr>
<tr><td>Pathogenic; other</td><td>1</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Pathogenic; other%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Pathogenic; other"[Clinical Interpretation]</a></td></tr>
<tr><td>Uncertain risk allele</td><td>1</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Uncertain risk allele%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Uncertain risk allele"[Clinical Interpretation]</a></td></tr>
<tr><td>Uncertain significance; Pathogenic/Likely pathogenic</td><td>1</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22Uncertain significance; Pathogenic/Likely pathogenic%22%5BClinical Interpretation%5D">"nstd102"[study] AND "Uncertain significance; Pathogenic/Likely pathogenic"[Clinical Interpretation]</a></td></tr>
</tbody></table>
<span id="origin"></span>
<h3>Origin</h3>
<table><tbody>
<tr><th>Origin</th><th>Total Variant Calls</th><th>Query</th></tr>
<tr><td>germline</td><td>34,074</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22germline%22%5BOrigin%5D">"nstd102"[study] AND "germline"[Origin]</a></td></tr>
<tr><td>unknown</td><td>28,671</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22unknown%22%5BOrigin%5D">"nstd102"[study] AND "unknown"[Origin]</a></td></tr>
<tr><td>not provided</td><td>18,268</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22not provided%22%5BOrigin%5D">"nstd102"[study] AND "not provided"[Origin]</a></td></tr>
<tr><td>de novo</td><td>2,445</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22de novo%22%5BOrigin%5D">"nstd102"[study] AND "de novo"[Origin]</a></td></tr>
<tr><td>maternal</td><td>1,953</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22maternal%22%5BOrigin%5D">"nstd102"[study] AND "maternal"[Origin]</a></td></tr>
<tr><td>paternal</td><td>1,301</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22paternal%22%5BOrigin%5D">"nstd102"[study] AND "paternal"[Origin]</a></td></tr>
<tr><td>see ClinVar for details</td><td>750</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22see ClinVar for details%22%5BOrigin%5D">"nstd102"[study] AND "see ClinVar for details"[Origin]</a></td></tr>
<tr><td>somatic</td><td>385</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22somatic%22%5BOrigin%5D">"nstd102"[study] AND "somatic"[Origin]</a></td></tr>
<tr><td>inherited</td><td>212</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22inherited%22%5BOrigin%5D">"nstd102"[study] AND "inherited"[Origin]</a></td></tr>
<tr><td>biparental</td><td>54</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22biparental%22%5BOrigin%5D">"nstd102"[study] AND "biparental"[Origin]</a></td></tr>
<tr><td>tested-inconclusive</td><td>18</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22tested-inconclusive%22%5BOrigin%5D">"nstd102"[study] AND "tested-inconclusive"[Origin]</a></td></tr>
<tr><td>not applicable</td><td>1</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22not applicable%22%5BOrigin%5D">"nstd102"[study] AND "not applicable"[Origin]</a></td></tr>
<tr><td>not-reported</td><td>1</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22not-reported%22%5BOrigin%5D">"nstd102"[study] AND "not-reported"[Origin]</a></td></tr>
</tbody></table>
<span id="phenotype"></span>
<h3>Phenotypes</h3>
<p>The following table shows the 20 most frequent phenotype values for nstd102 variants.
<p><strong>Please note:</strong>
<ul>
<li>The term <strong>'not provided'</strong> is registered in MedGen to support identification of submissions to ClinVar for which no condition was named when assessing the variant. <strong>'not provided'</strong> differs from <strong>'not specified'</strong>, which is used when a variant is asserted to be Benign, Likely benign, or of Uncertain significance for conditions that have not been specified.</li>
<li><strong>'see cases'</strong> indicates multiple phenotypes were present in the corresponding ClinVar record. Phenotype values can be found by consulting ClinVar.
</li></ul>
<table><tbody>
<tr><th>Phenotype</th><th>Total Variant Calls</th><th>Query</th></tr>
<tr><td>not provided</td><td>39,228</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22not%22%5BClinical Phenotype%5D+AND+%22provided%22%5BClinical Phenotype%5D">"nstd102"[study] AND "not"[Clinical Phenotype] ...</a></td></tr>
<tr><td>see cases</td><td>23,745</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22see%22%5BClinical Phenotype%5D+AND+%22cases%22%5BClinical Phenotype%5D">"nstd102"[study] AND "see"[Clinical Phenotype] ...</a></td></tr>
<tr><td>not specified </td><td>1,728</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22not%22%5BClinical Phenotype%5D+AND+%22specified%22%5BClinical Phenotype%5D">"nstd102"[study] AND "not"[Clinical Phenotype] ...</a></td></tr>
<tr><td>brca1- and brca2-associated hereditary breast and ovarian cancer</td><td>1,142</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22brca1%22%5BClinical Phenotype%5D+AND+%22and%22%5BClinical Phenotype%5D+AND+%22brca2%22%5BClinical Phenotype%5D+AND+%22associated%22%5BClinical Phenotype%5D+AND+%22hereditary%22%5BClinical Phenotype%5D+AND+%22breast%22%5BClinical Phenotype%5D+AND+%22and%22%5BClinical Phenotype%5D+AND+%22ovarian%22%5BClinical Phenotype%5D+AND+%22cancer%22%5BClinical Phenotype%5D">"nstd102"[study] AND "brca1"[Clinical Phenotype] ...</a></td></tr>
<tr><td>duchenne muscular dystrophy </td><td>846</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22duchenne%22%5BClinical Phenotype%5D+AND+%22muscular%22%5BClinical Phenotype%5D+AND+%22dystrophy%22%5BClinical Phenotype%5D">"nstd102"[study] AND "duchenne"[Clinical Phenotype] ...</a></td></tr>
<tr><td>colorectal neoplasms, hereditary nonpolyposis</td><td>528</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22colorectal%22%5BClinical Phenotype%5D+AND+%22neoplasms%22%5BClinical Phenotype%5D+AND+%22hereditary%22%5BClinical Phenotype%5D+AND+%22nonpolyposis%22%5BClinical Phenotype%5D">"nstd102"[study] AND "colorectal"[Clinical Phenotype] ...</a></td></tr>
<tr><td>fanconi anemia, complementation group a; fanca</td><td>482</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22fanconi%22%5BClinical Phenotype%5D+AND+%22anemia%22%5BClinical Phenotype%5D+AND+%22complementation%22%5BClinical Phenotype%5D+AND+%22group%22%5BClinical Phenotype%5D+AND+%22a%22%5BClinical Phenotype%5D+AND+%22fanca%22%5BClinical Phenotype%5D">"nstd102"[study] AND "fanconi"[Clinical Phenotype] ...</a></td></tr>
<tr><td>familial hypercholesterolemia</td><td>311</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22familial%22%5BClinical Phenotype%5D+AND+%22hypercholesterolemia%22%5BClinical Phenotype%5D">"nstd102"[study] AND "familial"[Clinical Phenotype] ...</a></td></tr>
<tr><td>neurofibromatosis, type i; nf1</td><td>297</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22neurofibromatosis%22%5BClinical Phenotype%5D+AND+%22type%22%5BClinical Phenotype%5D+AND+%22i%22%5BClinical Phenotype%5D+AND+%22nf1%22%5BClinical Phenotype%5D">"nstd102"[study] AND "neurofibromatosis"[Clinical Phenotype] ...</a></td></tr>
<tr><td>schizophrenia; sczd</td><td>228</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22schizophrenia%22%5BClinical Phenotype%5D+AND+%22sczd%22%5BClinical Phenotype%5D">"nstd102"[study] AND "schizophrenia"[Clinical Phenotype] ...</a></td></tr>
<tr><td>normal pregnancy</td><td>224</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22normal%22%5BClinical Phenotype%5D+AND+%22pregnancy%22%5BClinical Phenotype%5D">"nstd102"[study] AND "normal"[Clinical Phenotype] ...</a></td></tr>
<tr><td>premature ovarian failure 1; pof1</td><td>222</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22premature%22%5BClinical Phenotype%5D+AND+%22ovarian%22%5BClinical Phenotype%5D+AND+%22failure%22%5BClinical Phenotype%5D+AND+%22pof1%22%5BClinical Phenotype%5D">"nstd102"[study] AND "premature"[Clinical Phenotype] ...</a></td></tr>
<tr><td>lynch syndrome</td><td>219</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22lynch%22%5BClinical Phenotype%5D+AND+%22syndrome%22%5BClinical Phenotype%5D">"nstd102"[study] AND "lynch"[Clinical Phenotype] ...</a></td></tr>
<tr><td>ductal breast carcinoma </td><td>218</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22ductal%22%5BClinical Phenotype%5D+AND+%22breast%22%5BClinical Phenotype%5D+AND+%22carcinoma%22%5BClinical Phenotype%5D">"nstd102"[study] AND "ductal"[Clinical Phenotype] ...</a></td></tr>
<tr><td>ataxia-telangiectasia; at</td><td>214</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22ataxia%22%5BClinical Phenotype%5D+AND+%22telangiectasia%22%5BClinical Phenotype%5D+AND+%22at%22%5BClinical Phenotype%5D">"nstd102"[study] AND "ataxia"[Clinical Phenotype] ...</a></td></tr>
<tr><td>early infantile epileptic encephalopathy</td><td>213</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22early%22%5BClinical Phenotype%5D+AND+%22infantile%22%5BClinical Phenotype%5D+AND+%22epileptic%22%5BClinical Phenotype%5D+AND+%22encephalopathy%22%5BClinical Phenotype%5D">"nstd102"[study] AND "early"[Clinical Phenotype] ...</a></td></tr>
<tr><td>ciliary dyskinesia</td><td>178</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22ciliary%22%5BClinical Phenotype%5D+AND+%22dyskinesia%22%5BClinical Phenotype%5D">"nstd102"[study] AND "ciliary"[Clinical Phenotype] ...</a></td></tr>
<tr><td>abnormal esophagus morphology</td><td>165</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22abnormal%22%5BClinical Phenotype%5D+AND+%22esophagus%22%5BClinical Phenotype%5D+AND+%22morphology%22%5BClinical Phenotype%5D">"nstd102"[study] AND "abnormal"[Clinical Phenotype] ...</a></td></tr>
<tr><td>cohen syndrome; coh1</td><td>159</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22cohen%22%5BClinical Phenotype%5D+AND+%22syndrome%22%5BClinical Phenotype%5D+AND+%22coh1%22%5BClinical Phenotype%5D">"nstd102"[study] AND "cohen"[Clinical Phenotype] ...</a></td></tr>
<tr><td>gestational diabetes mellitus uncontrolled</td><td>156</td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22gestational%22%5BClinical Phenotype%5D+AND+%22diabetes%22%5BClinical Phenotype%5D+AND+%22mellitus%22%5BClinical Phenotype%5D+AND+%22uncontrolled%22%5BClinical Phenotype%5D">"nstd102"[study] AND "gestational"[Clinical Phenotype] ...</a></td></tr>
</tbody></table>
<span id="mapping"></span>
<h2>Mapping to other dbVar Studies</h2>
All clinical variants from other studies in have been re-accessioned in <a href="/dbvar/studies/nstd102">Clinical Structural Variants (nstd102)</a>. The studies listed in the summary table below will be sunsetted (retired) in 2021. A file mapping accessions in other studies to those in nstd102 is available at <a href="https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/release_notes/nstd102_accession_mapping.txt">nstd102_accession_mapping.txt</a>.
Please note these differences between the sunsetted studies and nstd102:
<table><tbody>
<tr><th>Property</th><th>Sunsetted studies</th><th>nstd102</th></tr>
<tr><td><strong>basis of variant call identity</strong></td><td>ClinVar SCVs (submitted variants)</td><td>ClinVar RCV + AlleleID</td></tr>
<tr><td><strong>experiment</strong></td><td>Multiple experiments</td><td>Single experiment</td></tr>
<tr><td><strong>laboratory, method, sample, subject</strong></td><td>Associated with each variant call</td><td>Not reported. Variant calls are aggregated and may combine data from multiple sources. <strong>Individual values can be explored by following the variant's link to ClinVar.</strong></td></tr>
<tr><td><strong>clinical significance, phenotype, origin</strong></td><td>Single value for each variant call</td><td>Variant calls are aggregated and may combine multiple and even conflicting values. <strong>Individual values can be explored by following the variant's link to ClinVar.</strong></td></tr>
</tbody></table>
<table><tbody>
<tr><th>Study</th><th>Obsolete Calls matched to nstd102</th><th>Obsolete Calls not matched to nstd102</th></tr>
<tr><td><a href="/dbvar/studies/nstd37">Miller et al. 2010</a></td><td>33,035</td><td>7,934</td></tr>
<tr><td><a href="/dbvar/studies/nstd51">User submitted curated variants</a></td><td>228</td><td>12</td></tr>
<tr><td><a href="/dbvar/studies/nstd101">Kaminsky et al. 2011</a></td><td>3,787</td><td>844</td></tr>
<tr><td><a href="/dbvar/studies/nstd103">LSDB submitted variants</a></td><td>130</td><td>0</td></tr>
<tr><td><a href="/dbvar/studies/estd228">Ansari et al. 2016</a></td><td>12</td><td>0</td></tr>
<tr><td><a href="/dbvar/studies/estd232">Blanco-Kelly et al. 2017</a></td><td>8</td><td>0</td></tr>
<tr><th>Total</th><th>37,200</th><th>8,790</th></tr>
</tbody></table>
<span id="history"></span>
<h2>nstd102 Load History</h2>
<table><tbody>
<tr><th>Date Updated</th><th>Data Source</th><th>Total ClinVar IDs</th><th>ClinVar RCV+AlleleIDs Filtered</th><th>nstd102 Variant Calls (Generated from ClinVar RCV+AlleleIDs)</th><th>nstd102 Variant Regions</th><th>Comment</th></tr>
<tr><td>August, 2023</td><td>ClinVarFullRelease_2023-08.xml.gz</td><td>3,061,431</td><td>2,886,101</td><td>88,133</td><td>83,537</td><td>July-August 2023 Release</td></tr>
<tr><td>June, 2023</td><td>ClinVarFullRelease_2023-06.xml.gz</td><td>2,975,570</td><td>2,802,014</td><td>87,929</td><td>83,332</td><td>May/June 2023 Release</td></tr>
<tr><td>May, 2023</td><td>ClinVarFullRelease_2023-05.xml.gz</td><td>2,971,536</td><td>2,798,545</td><td>87,840</td><td>83,251</td><td>May/June 2023 Release</td></tr>
<tr><td>April, 2023</td><td>ClinVarFullRelease_2023-04.xml.gz</td><td>2,927,296</td><td>2,755,316</td><td>87,719</td><td>83,130</td><td>March/April 2023 Release</td></tr>
<tr><td>March, 2023</td><td>ClinVarFullRelease_2023-03.xml.gz</td><td>2,901,539</td><td>2,729,191</td><td>88,740</td><td>83,952</td><td>dbVar March/April 2023 Release</td></tr>
</tbody></table>
<span id="data_access"></span>
<h2>Data Access</h2>
<ul>
<li>Study Page: <a href="/dbvar/studies/nstd102">Clinical Structural Variants (nstd102)</a>.</li>
<li>Summary of Variant Counts: <a href="/dbvar/content/var_summary/#nstd102">nstd102 Variant Summary</a>.</li>
<li>Search dbVar: <a href="/dbvar?term=nstd102">nstd102 Variants</a>.</li>
<li>Data Download: <a href="/dbvar/content/ftp_manifest">ftp_manifest</a>.</li>
<li>dbVar Browser: <a href="/dbvar/browse/org/?taxid=9606&amp;assm=GCF_000001405.39&amp;chr=NC_000001.11&amp;studies=nstd102">nstd102 on GRCh38 chr1</a>.</li>
<li><a href="https://genome.ucsc.edu/cgi-bin/hgHubConnect?hgsid=793675179_bSfXoQGEcsrNstCYWgVX5yNJE8aR#publicHubs">UCSC Track Hubs</a>: Connect to Public dbVar Hub</li>
</ul>
<span id="additional_info"></span>
<h2>Additional Information</h2>
<ul>
<li><a href="/dbvar/content/overview">dbVar Overview</a>.</li>
<li><a href="/clinvar">ClinVar</a>.</li>
</ul>
</p></p></p></p>
</div>
<!--/.col1-->
<div class="col2">
</div>
<!--/.col2-->
<div class="col3">
</div>
<!--/.col3-->
<div class="col4">
</div>
<!--/.col4-->
<div class="col5">
</div>
<div class="col6">
</div>
<div class="col7">
</div>
<div class="col8">
</div>
<div class="col9">
</div>
</div><!--/.content-->
</div><!--/.container-->
<div id="NCBIFooter_dynamic">
<div class="breadcrumbs">You are here:
<span id="breadcrumb_text"><a href="/guide/">NCBI</a></span></div>
<a id="help-desk-link" class="help_desk" href="https://support.ncbi.nlm.nih.gov/ics/support/default.asp?Time=2025-03-05T05:13:34-05:00&amp;Snapshot=%2Fprojects%2FdbVar%2FdbVar@9.7&amp;Host=portal106&amp;ncbi_phid=CE8DD50A7C81D0C10000000000720063&amp;ncbi_session=CE8B5AF87C7FFCB1_0191SID&amp;from=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fdbvar%2Fcontent%2Fclinvar_summary%2F&amp;Ncbi_App=dbvar&amp;Page=static&amp;style=classic&amp;deptID=28049" target="_blank">Support Center</a>
<noscript><img alt="" src="/stat?jsdisabled=true&amp;ncbi_app=dbvar&amp;ncbi_db=&amp;ncbi_pdid=static&amp;ncbi_phid=CE8DD50A7C81D0C10000000000720063" /></noscript>
</div>
<div xmlns:xi="http://www.w3.org/2001/XInclude">
<div xmlns="http://www.w3.org/1999/xhtml" class="footer" id="footer" xml:base="http://127.0.0.1/sites/static/header_footer">
<section class="icon-section">
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
<div class="grid-container container">
<div class="icon-section_container">
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
<svg xmlns="http://www.w3.org/2000/svg" width="40" height="40" viewBox="0 0 40 40" fill="none">
<title>Twitter</title>
<g id="twitterx1008">
<path id="path1008" d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z" fill="#5B616B"></path>
</g>
</svg>
</a>
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
<title>Facebook</title>
<path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
</path>
</svg></a>
<a class="footer-icon" id="footer_linkedin" href="https://www.linkedin.com/company/ncbinlm" aria-label="LinkedIn"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
<title>LinkedIn</title>
<path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
</path>
</svg></a>
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
<defs>
<style>
.cls-11,
.cls-12 {
fill: #737373;
}
.cls-11 {
fill-rule: evenodd;
}
</style>
</defs>
<title>GitHub</title>
<path class="cls-11" d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
</path>
<path class="cls-12" d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
</path>
<path class="cls-12" d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
</path>
<path class="cls-12" d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
<path class="cls-12" d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
</path>
<path class="cls-12" d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
</path>
<path class="cls-12" d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
</path>
<path class="cls-12" d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
</svg></a>
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
<svg xmlns="http://www.w3.org/2000/svg" id="Layer_1" data-name="Layer 1" viewBox="0 0 40 40">
<defs><style>.cls-1{fill:#737373;}</style></defs>
<title>NCBI Insights Blog</title>
<path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"></path>
</svg>
</a>
</div>
</div>
</section>
<section class="container-fluid bg-primary">
<div class="container pt-5">
<div class="row mt-3">
<div class="col-lg-3 col-12">
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
<ul class="list-inline social_media">
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter" target="_blank" rel="noopener noreferrer">
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
<title>Twitter</title>
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
<path id="Vector_Twitter" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
</g>
<defs>
<clipPath id="clip0_65276_3946">
<rect width="35" height="35" fill="white"></rect>
</clipPath>
</defs>
</svg>
</a></li>
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine" aria-label="Facebook" rel="noopener noreferrer" target="_blank">
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
<title>Facebook</title>
<g id="Facebook" clip-path="url(#clip0_1717_1086)">
<path id="Vector_Facebook" d="M15.1147 29.1371C15.1147 29.0822 15.1147 29.0296 15.1147 28.9747V18.9414H11.8183C11.6719 18.9414 11.6719 18.9414 11.6719 18.8018C11.6719 17.5642 11.6719 16.3289 11.6719 15.0937C11.6719 14.9793 11.7062 14.9518 11.816 14.9518C12.8683 14.9518 13.9206 14.9518 14.9751 14.9518H15.1215V14.8329C15.1215 13.8057 15.1215 12.774 15.1215 11.7492C15.1274 10.9262 15.3148 10.1146 15.6706 9.37241C16.1301 8.38271 16.9475 7.60378 17.9582 7.19235C18.6492 6.90525 19.3923 6.76428 20.1405 6.7783C21.0029 6.79202 21.8653 6.83091 22.7278 6.86065C22.8879 6.86065 23.048 6.89496 23.2082 6.90182C23.2974 6.90182 23.3271 6.94071 23.3271 7.02993C23.3271 7.54235 23.3271 8.05477 23.3271 8.5649C23.3271 9.16882 23.3271 9.77274 23.3271 10.3767C23.3271 10.4819 23.2974 10.5139 23.1921 10.5116C22.5379 10.5116 21.8814 10.5116 21.2271 10.5116C20.9287 10.5184 20.6316 10.5528 20.3395 10.6146C20.0822 10.6619 19.8463 10.7891 19.6653 10.9779C19.4842 11.1668 19.3672 11.4078 19.3307 11.6669C19.2857 11.893 19.2612 12.1226 19.2575 12.3531C19.2575 13.1904 19.2575 14.0299 19.2575 14.8695C19.2575 14.8946 19.2575 14.9198 19.2575 14.9564H23.0229C23.1807 14.9564 23.183 14.9564 23.1624 15.1074C23.0778 15.7662 22.9885 16.425 22.9039 17.0816C22.8322 17.6321 22.7636 18.1827 22.698 18.7332C22.6729 18.9437 22.6797 18.9437 22.4693 18.9437H19.2644V28.8992C19.2644 28.9793 19.2644 29.0593 19.2644 29.1394L15.1147 29.1371Z" fill="white"></path>
<path id="Vector_2_Facebook" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
</g>
<defs>
<clipPath id="clip0_1717_1086">
<rect width="35" height="35" fill="white"></rect>
</clipPath>
</defs>
</svg>
</a></li>
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer">
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
<title>Youtube</title>
<g id="YouTube" clip-path="url(#clip0_1717_1101)">
<path id="Vector_Youtube" d="M26.2571 11.4791C25.9025 11.1589 25.5709 10.9576 24.228 10.834C22.5512 10.6785 20.2797 10.6556 18.564 10.6533H16.4365C14.7208 10.6533 12.4493 10.6785 10.7725 10.834C9.43196 10.9576 9.09798 11.1589 8.7434 11.4791C7.81464 12.321 7.6202 14.6268 7.59961 16.8938C7.59961 17.3178 7.59961 17.741 7.59961 18.1635C7.62706 20.4121 7.82837 22.686 8.7434 23.521C9.09798 23.8412 9.42967 24.0425 10.7725 24.1661C12.4493 24.3216 14.7208 24.3445 16.4365 24.3468H18.564C20.2797 24.3468 22.5512 24.3216 24.228 24.1661C25.5686 24.0425 25.9025 23.8412 26.2571 23.521C27.1722 22.6929 27.3735 20.451 27.4009 18.2206C27.4009 17.7402 27.4009 17.2599 27.4009 16.7795C27.3735 14.5491 27.1699 12.3072 26.2571 11.4791ZM15.5604 20.5311V14.652L20.561 17.5001L15.5604 20.5311Z" fill="white"></path>
<path id="Vector_2_Youtube" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
</g>
<defs>
<clipPath id="clip0_1717_1101">
<rect width="35" height="35" fill="white"></rect>
</clipPath>
</defs>
</svg>
</a></li>
</ul>
</div>
<div class="col-lg-3 col-12">
<p class="address_footer text-white">National Library of Medicine<br />
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
Bethesda, MD 20894</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
</div>
</div>
<div class="row">
<div class="col-lg-12 centered-lg">
<nav class="bottom-links">
<ul class="mt-3">
<li>
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
</li>
<li>
<a class="text-white" href="https://www.nih.gov/">NIH</a>
</li>
<li>
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
</li>
<li>
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
</li>
</ul>
</nav>
</div>
</div>
</div>
</section>
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
</div>
</div>
<!--/.footer-->
<p class="last-updated small">Last updated: 2023-09-18T14:00:07Z</p>
</div>
<!--/.page-->
</div>
<!--/.wrap-->
<span class="PAFAppResources"></span>
</div><!-- /.twelve_col -->
</div>
<!-- /.grid -->
<!-- usually for JS scripts at page bottom -->
<span class="pagefixtures"></span>
<!-- CE8B5AF87C7FFCB1_0191SID /projects/dbVar/dbVar@9.7 portal106 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
<script type='text/javascript' src='/portal/js/portal.js'></script><script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4206115/js/3879255/4121861/4206117/4087685.js" snapshot="dbvar"></script></body>
</html>
Reference in a new issue View git blame Copy permalink